Linked Data
ClinVar Variation Id:
335688
dbSNP Id:
rs141010693
ExAC:
2:29416520 A / G
gnomAD v2:
2-29416520-A-G
gnomAD v3:
2-29193654-A-G
gnomAD v4:
2-29193654-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29193654A>G , CM000664.2:g.29193654A>G | GRCh38 |
| NC_000002.11:g.29416520A>G , CM000664.1:g.29416520A>G | GRCh37 |
| NC_000002.10:g.29270024A>G | NCBI36 |
| NG_009445.1:g.732913T>C , LRG_488:g.732913T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689605.1:c.1923-3274A>G (CLIP4) | ENSP00000508948.1:n.1923-3274A>G | |
| ENST00000389048.8:c.4433T>C (ALK) MANE Select | ENSP00000373700.3:p.Met1478Thr | |
| ENST00000431873.6:c.1660T>C (ALK) | ||
| ENST00000638605.1:n.1310T>C (ALK) | ||
| ENST00000642122.1:c.1229T>C (ALK) | ENSP00000493203.1:p.Met410Thr | |
| ENST00000389048.7:c.4433T>C (ALK) | ENSP00000373700.3:p.Met1478Thr | |
| ENST00000431873.5:c.1313T>C (ALK) | ENSP00000414027.2:p.Met438Thr | |
| ENST00000618119.4:c.3302T>C (ALK) | ENSP00000482733.1:p.Met1101Thr | |
| NM_004304.4:c.4433T>C (ALK) | NP_004295.2:p.Met1478Thr | |
| NM_001353765.1:c.1229T>C (ALK) | NP_001340694.1:p.Met410Thr | |
| XM_024452778.1:c.1586T>C (ALK) | XP_024308546.1:p.Met529Thr | |
| XM_024452779.1:c.1229T>C (ALK) | XP_024308547.1:p.Met410Thr | |
| NM_004304.5:c.4433T>C (ALK) MANE Select | NP_004295.2:p.Met1478Thr | |
| NM_001353765.2:c.1229T>C (ALK) | NP_001340694.1:p.Met410Thr |